Area of research
Physiology · Molecular Biology
Research interest
Research interests include Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Metabolism and Genetic Disorders, and Carbohydrate Chemistry and Synthesis.
Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications
<i>ALG13</i> X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function
International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management
Expanding the molecular and clinical phenotypes of FUT8‐CDG
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Oral D-galactose supplementation in PGM1-CDG
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, <i>SLC35A1</i>
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Enhanced interpretation of newborn screening results without analyte cutoff values
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation